Mutations in the Inositol 1,4,5-Trisphosphate Receptor Type 1 (ITPR1) gene cause spinocerebellar ataxia type 29 (SCA29), a rare congenital-onset autosomal dominant non-progressive cerebellar ataxia. The Māori, in...
Authors: Kathie J. Ngo, Gemma Poke, Katherine Neas and Brent L. Fogel
The spinocerebellar ataxias (SCA) are a heterogeneous group of progressive neurodegenerative disorders that are associated with diffuse cerebellar atrophy. While the physical symptoms of this condition have lo...
Nonmotor symptoms (NMS) have been increasingly recognized in a number of neurodegenerative diseases with a burden of disability that parallels or even surpasses that induced by motor symptoms. As NMS have ofte...
Authors: Adriana Moro, Mariana Moscovich, Marina Farah, Carlos Henrique F. Camargo, Hélio A. G. Teive and Renato P. Munhoz
Disorders of the cerebellum may present with motor, cognitive, behavioral and affective symptoms. There is a growing interest in developing neuroanatomical models of symptoms generation that involve the cerebe...
Authors: Emanuela Molinari, Maria Oto, Ashita Waterston and Natasha Fullerton
Friedreich ataxia (FRDA) is the most common familial ataxia syndrome in Central and Southern Europe but rare in Scandinavia. Biallelic mutations in SH3 domain and tetratricopeptide repeats 2 (SH3TC2) cause Charco...
Authors: Humberto Skott, Cristina Muntean-Firanescu, Kristin Samuelsson, Luca Verrecchia, Per Svenningsson, Helena Malmgren, Carmen Cananau, Alberto J. Espay, Rayomand Press, Göran Solders and Martin Paucar
Paraneoplastic cerebellar degeneration is usually associated with gynecological and breast cancer, lung cancer, and Hodgkin’s lymphoma. Renal cell carcinoma has rarely been described as an underlying malignanc...
Authors: Sara M. Souza, Barbara O. Santos, Isadora C.A. Sodré, Ana Luiza P. Oliveira, Diogo Terrana and Mariana Spitz
Multiple system atrophy (MSA) is a sporadic adult-onset neurodegenerative disease with a cerebellar subtype where ataxic symptoms predominate (MSA-C) associated with autonomic dysfunction and a grave prognosis...
Authors: Viren H. Kadodwala, Marios Hadjivassiliou, Stuart Currie, Nicholas Skipper and Nigel Hoggard
Within the context of Clausi, Olivito, Lupo, Siciliano, Bozzali and Leggio’s (Cell Neurosci 12:510, 2019) insightful study of how prediction of theory of mind (ToM) is compromised in degenerative cerebellar at...
Tremor is a common side effect of treatment with lithium. Its characteristics can vary and when less rhythmical, distinction from myoclonus can be difficult.
Authors: Ptolemaios Georgios Sarrigiannis, Panagiotis Zis, Zoe Charlotte Unwin, Daniel J. Blackburn, Nigel Hoggard, Yifan Zhao, Stephen A. Billings, Aijaz A. Khan, John Yianni and Marios Hadjivassiliou
Fetal magnetic resonance imaging (MRI), mainly performed at standard field strength, plays a role in the classification of posterior fossa malformations. In the context of early second-trimester screening, upw...
Authors: Thomas Kau, Robert Birnbacher, Peter Schwärzler, Sandra Habernig, Hannes Deutschmann and Eugen Boltshauser
Cognitive decline is a common non-motor feature characterizing Spinocerebellar Ataxia type 2 (SCA2) during the prodromal stage, nevertheless a reduced number of surrogate biomarkers of these alterations have b...
Authors: Roberto Rodríguez-Labrada, Luis Velázquez-Pérez, Ricardo Ortega-Sánchez, Arnoy Peña-Acosta, Yaimeé Vázquez-Mojena, Nalia Canales-Ochoa, Jacqueline Medrano-Montero, Reidenis Torres-Vega and Yanetza González-Zaldivar
CAPOS (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and Sensorineural hearing loss) syndrome is caused by the heterozygous mutation, c.2452G > A, in the ATP1A3 gene. Other mutations in this gene can cau...
Authors: Ida Stenshorne, Magnhild Rasmussen, Panagiotis Salvanos, Chantal M. E. Tallaksen, Laurence A. Bindoff and Jeanette Koht
Eye movements are frequently considered diagnostic markers indicating involvement of the cerebellum. Impaired amplitude of saccades (saccade dysmetria), impaired gaze holding function (horizontal or downbeat n...
Authors: Kelsey Jensen, Sinem Balta Beylergil and Aasef G. Shaikh
In Patients with spinocerebellar ataxia type 6 (SCA6) are often treated by transcranial magnetic stimulation (TMS) over the motor cortex and cerebellum. However, few reports have examined effective therapeutic...
Authors: Kentaro Kawamura, Seiji Etoh and Megumi Shimodozono
Many children with neurofibromatosis type 1 (NF1) have focal abnormal signal intensities (FASI) on brain MRI, whose full clinical impact and natural history have not been studied systematically. Our aims are t...
Authors: Michael S Salman, Shakhawat Hossain, Lina Alqublan, Martin Bunge and Katya Rozovsky
Focal abnormal signal intensities (FASI) on brain MRI occur commonly in patients with neurofibromatosis type 1 (NF1). The natural history of cerebellar FASI and their correlation with clinical features have no...
Authors: Michael S. Salman, Shakhawat Hossain, Samantha Gorun, Lina Alqublan, Martin Bunge and Katya Rozovsky
Riboflavin transporter deficiency (Brown-Vialetto-Van Laere syndrome) is a rare recessive neurodegenerative disorder that can present with gait ataxia, primarily due to sensory neuropathy as well as cerebellar...
Though the cerebellum’s role in visuospatial and fine motor functioning has been well-established over the last several years, the role of the cerebellum in emotion has more recently been a focus of scientific...
After publication of the original article [1], the authors reported their Given Names and Family names had been incorrectly reverted so they were presented as:
Authors: Stephen Ramanoel, Elizabeth York and Christophe Habas
The cerebellum has a striking homogeneous cytoarchitecture and participates in both motor and non-motor domains. Indeed, a wealth of evidence from neuroanatomical, electrophysiological, neuroimaging and clinic...
Authors: Charlotte Lawrenson, Martin Bares, Anita Kamondi, Andrea Kovács, Bridget Lumb, Richard Apps, Pavel Filip and Mario Manto
Joubert syndrome (JS) is a rare, autosomal recessively inherited genetic disorder characterized morphologically by unique developmental malformations of the cerebellum and brainstem (the molar tooth sign), and...
Authors: Chelsea L. Hickey, Janet C. Sherman, Paula Goldenberg, Amy Kritzer, Paul Caruso, Jeremy D. Schmahmann and Mary K. Colvin
Spinocerebellar ataxia 17 (SCA17) is one of the most heterogeneous forms of autosomal dominant cerebellar ataxias with a large clinical spectrum which can mimic other movement disorders such as Huntington dise...
Authors: Paola Origone, Fabio Gotta, Merit Lamp, Lucia Trevisan, Alessandro Geroldi, Davide Massucco, Matteo Grazzini, Federico Massa, Flavia Ticconi, Matteo Bauckneht, Roberta Marchese, Giovanni Abbruzzese, Emilia Bellone and Paola Mandich
Cranial-nerve non-invasive neuromodulation (CN-NINM) using the portable neuromodulation stimulator (PoNS™) device has been proposed as a novel adjuvant intervention to improve efficacy of gait and balance. This d...
Authors: Andisheh Bastani, L. Eduardo Cofré Lizama, Maryam Zoghi, Grant Blashki, Stephen Davis, Andrew H. Kaye, Fary Khan and Mary P. Galea
Previous ROI-based functional connectivity studies found functional coherence between cerebellum and cerebral amygdale, at rest. Moreover, some neurospychiatric symptoms were accompanied by abnormal activation...
Autism is a neurodevelopmental disorder that is first manifested during early childhood. Postmortem experiments have identified significantly elevated expression of metabotropic glutamate receptor 5 (mGluR5) i...
Authors: S. Hossein Fatemi, Dean F. Wong, James R. Brašić, Hiroto Kuwabara, Anil Mathur, Timothy D. Folsom, Suma Jacob, George M. Realmuto, José V. Pardo and Susanne Lee
The cerebellum, its normal functions and its diseases, and especially its relation to the control of eye movements, has been at the heart of my academic career. Here I review how this came about, with an empha...
In traditional models of essential tremor, the inferior olivary nucleus was posited to play a central role as the pacemaker for the tremor. However, recent data call this disease model into question.
Authors: Elan D. Louis, Daniel Trujillo Diaz, Sheng-Han Kuo, Shi-Rui Gan, Etty P. Cortes, Jean Paul G. Vonsattel and Phyllis L. Faust
The feasibility to administer magnetic and electric fields in a non-invasive manner to influence brain areas has attracted scientists interested in studying the neural correlates of normal and pathological for...
Authors: Adriana B. Conforto and Dennis J. L. G. Schutter
Cerebellar ataxia with sensory ganglionopathy (SG) is a disabling combination of neurological dysfunction usually seen as part of some hereditary ataxias. However, patients may present with this combination wi...
Authors: Panagiotis Zis, Ptolemaios Georgios Sarrigiannis, Dasappaiah Ganesh Rao, Nigel Hoggard, David Surendran Sanders and Marios Hadjivassiliou
Saccade slowing has been proposed as endophenotype marker in Spinocerebellar Ataxia type 2 (SCA2), nevertheless the heritability of this trait has not been properly demonstrated. Thus the present paper was aim...
Authors: Roberto Rodríguez-Labrada, Yaimeé Vázquez-Mojena, Nalia Canales-Ochoa, Jacqueline Medrano-Montero and Luis Velázquez-Pérez
To date, 43 types of Spinocerebellar Ataxias (SCAs) have been identified. A subset of the SCAs are caused by the pathogenic expansion of a CAG repeat tract within the corresponding gene. Ethnic and geographic ...
Authors: Masharip Atadzhanov, Danielle C. Smith, Mwila H. Mwaba, Omar K. Siddiqi, Alan Bryer and L. Jacquie Greenberg
The cerebellum is a vulnerable target of autoimmunity in the CNS. The category of immune-mediated cerebellar ataxias (IMCAs) was recently established, and includes in particular paraneoplastic cerebellar degen...
Authors: Hiroshi Mitoma, Mario Manto and Christiane S. Hampe
The control of grip forces when moving a hand held object is impaired in patients with cerebellar degeneration. We asked the question whether after-effects of anodal transcranial direct current stimulation (tD...
Authors: Liane John, Michael Küper, Thomas Hulst, Dagmar Timmann and Joachim Hermsdörfer
Hemicerebellitisis a rare acquired condition, typical of the pediatric age. A residual switched handedness may develop after remission of acute cerebellar symptoms.
Authors: Mario Mascalchi, Matteo Lenge, Andrea Bianchi, Emanuele Bartolini, Gioele Gavazzi, Flavio Giordano and Renzo Guerrini
Damage to the cerebellum may lead to motor dysfunctions, but also to the neuropsychological deficits that comprise the Cerebellar Cognitive Affective Syndrome (CCAS). It can affect executive functions, attenti...
Authors: Eva Bolceková, Matej Mojzeš, Quang Van Tran, Jaromír Kukal, Svatopluk Ostrý, Petr Kulišťák and Robert Rusina
Mathematicians and scientists have struggled to adequately describe the ultimate foundations of mathematics. Nobel laureates Albert Einstein and Eugene Wigner were perplexed by this issue, with Wigner concluding ...
Multiple system atrophy (MSA) is a rare progressive neurodegenerative disorder for which brief yet sensitive scale is required in order for use in clinical trials and general screening. We previously compared ...
The pathophysiological basis for essential tremor (ET) remains unclear, although evidence increasingly links it to a disordered and perhaps degenerative cerebellum. Prior imaging studies have treated the cereb...
Authors: Jonathan P. Dyke, Eric Cameron, Nora Hernandez, Ulrike Dydak and Elan D. Louis
The rate of disease progression differs among patients with degenerative cerebellar ataxia. The uncertain natural course in individual patients hinders clinical trials of promising treatments. In this study, w...
Granule cell neuronopathy (GCN) is a rare disease caused by the JC virus, leading to degeneration of cerebellar granule cell neurons. Primarily described in patients with AIDS, it has also been diagnosed in pa...
Authors: Kathryn B. Holroyd, Elias S. Sotirchos, Scott R. DeBoer, Kelly A. Mills and Scott D. Newsome
Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is an autosomal dominant inherited neurodegenerative disorder. Several post-mortem and imaging studies have shown cerebellar and brainstem atroph...
Authors: Carlos R. Hernandez-Castillo, Rosalinda Diaz, Aurelio Campos-Romo and Juan Fernandez-Ruiz
Dystonia is a movement disorder that is characterized by involuntary muscle contractions, abnormal movements and postures, as well as by non-motor symptoms, and is due to abnormalities in different brain areas...
Progressive multifocal leukoencephalopathy (PML) is a demyelinating disorder of the central nervous system caused by reactivation of the JC-virus and is in most cases associated with underlying immunosuppressi...
Authors: Ivan Kmezic, Jan Weinberg, Dan Hauzenberger, Farouk Hashim, Evangelia Kollia, Monika Klimkowska, Inger Nennesmo and Martin Paucar
Friedreich ataxia (FA) represents the most frequent type of inherited ataxia. Most patients carry homozygous GAA expansions in the first intron of the frataxin gene on chromosome 9. Due to epigenetic alteratio...
The classification of autosomal recessive ataxias represents a significant challenge because of high genetic heterogeneity and complex phenotypes. We conducted a comprehensive systematic review of the literatu...
Authors: Marie Beaudin, Christopher J. Klein, Guy A. Rouleau and Nicolas Dupré
Cerebellar mutism syndrome (CMS) or posterior fossa syndrome (PFS) consists of a constellation of neuropsychiatric, neuropsychological and neurogenic speech and language deficits. It is most commonly observed ...
Authors: E. De Witte, I. Wilssens, D. De Surgeloose, G. Dua, M. Moens, J. Verhoeven, M. Manto and P. Mariën
Cerebellar ataxia with sensory ganglionopathy is a rare neurological combination that can occur in some hereditary ataxias including mitochondrial diseases and in gluten sensitivity. Individually each conditio...
Authors: Panagiotis Zis, Dasappaiah Ganesh Rao, Bart E Wagner, Lucinda Nicholson-Goult, Nigel Hoggard and Marios Hadjivassiliou
